Sequence of events

Complete Genomics to sequence 250 samples for Erasmus University Medical Center for study of cancer and congenital malformations

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MOUNTAIN VIEW, Calif.—In an international collaboration aimed at unlocking the genetic codes and DNA strands related to diseases such as cancer and congenital malformations, human genome decoder Complete Genomics Inc. has developed and commercialized an innovative DNA sequencing platform to share with the Erasmus University Medical Center, based in Rotterdam, the Netherlands. The goal of the venture is to advance the understanding, treatment and prevention of cancer and other diseases.

The partnership, announced May 19, calls for Complete Genomics to sequence 250 DNA samples for Erasmus research studies over the next 12 months. Samples will come from patients with leukemia and other cancers and congenital malformations such as craniosynostosis.

Erasmus is also collaborating with several outside sources, including Sanquin Blood Supply Foundation, a not-for-profit organization that manages the blood supply in the Netherlands, and various teams at the Academic Medical Center of the University of Amsterdam to obtain some of the samples. Additional expertise in technology and data management is being co-developed for this translational medicine project through strategic partnerships with companies such as Ingenuity, Biobase, TIBCO/Spotfire, Oracle and VX Co.

Jennifer Turcotte, vice president of marketing at Complete Genomics, tells ddn that the collaboration is focused on human genome sequencing.

"We've taken a completely different approach to DNA sequencing than other companies in our industry," Turcotte says. "Rather than building a general purpose platform for sequencing all organisms and all applications, we have focused our technology and business on a single application—complete human genome sequencing. In addition, Complete Genomics offers our proprietary technology as an outsourced service, and we provide our customers with data that is immediately ready to be used for genome-based research. Customers send us their DNA samples, and we receive in return variant reports for each sample, which include SNPs (single nucleotide polymorphisms), insertions/deletions, copy number variations and structural variations."

Complete Genomics then gives its customers a high-quality, low-cost, large-scale solution for rapid biological discovery, Turcotte explains: "Access to our service enables researchers to conduct large-scale complete human genome studies, and these types of studies have the potential to revolutionize medical research and expand the understanding of the basis, treatment and prevention of complex diseases."

Erasmus has the vision and expertise to make for an ideal partner, she adds.

"Erasmus is focusing its research efforts on diseases where the technology has not been able to identify the genetic variants responsible," Turcotte says. "Our complete human genome sequencing service will allow Erasmus to study genetic variations at a higher resolution and greater sensitivity than has been previously possible, and to advance its genomic medicine pipeline. We hope that by furthering its understanding of the genetics of complex diseases, Erasmus can be at the forefront of developing better diagnostic screens that form the basis for genetic testing in monogenetic diseases and targeted treatment development for diseases such as cancer."

Peter J. van der Spek, Erasmus' head of bioinformatics, said in a company press release, "We decided to focus our research efforts with Complete Genomics on diseases where the current technology has not been able to identify the genetic variants responsible. We are optimistic that we will be able to obtain answers to some of the scientific questions that have proven elusive to date."

Since only 4 percent of the Dutch national healthcare budget is currently spent on diagnostics—and yet 72 percent of medical decisions depend on those diagnostics—Erasmus expects this new technology to change the way patient stratification is conducted for targeted treatments in the very near future in the Netherlands, van der Spek added.

Complete Genomics was established in June 2005 by Dr. Clifford Reid, Dr. Radoje Drmanac and John Curson, beginning operations in March 2006 and starting its commercial operations in May 2010. Drmanac, Complete Genomics' chief scientific officer, is one of the founders of the field of genomics and an early participant of the Human Genome Project. Reid, chairman, president and CEO, brought with him 25 years of experience in startup and growth companies, while Curson, chief financial officer, provided the financial expertise to make it all happen.

Knowing that complete human genome sequencing needed to be done on a large number of samples in order to provide researchers with meaningful perspectives into human diseases, large-scale genomic studies required a radically new business and scientific approach, requiring affordable sequencing at a higher throughput, and a completely new set of data management and analytics capabilities, the company says, adding that the challenge was not just technological, but also required the ability to bring the technology to market effectively.

Complete Genomics reports it has been able to achieve accuracy levels of 99.999 percent at a total cost that is significantly less than the total cost of purchasing and using commercially available DNA sequencing instruments.

Complete Genomics and Erasmus are also combining their resources and expertise on other, undisclosed research projects.

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